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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 31134

FusionGeneSummary for RGS7_DNAAF1

check button Fusion gene summary
Fusion gene informationFusion gene name: RGS7_DNAAF1
Fusion gene ID: 31134
HgeneTgene
Gene symbol

RGS7

DNAAF1

Gene ID

6000

123872

Gene nameregulator of G protein signaling 7dynein axonemal assembly factor 1
Synonyms-CILD13|LRRC50|ODA7|swt
Cytomap

1q43|1q23.1

16q24.1

Type of geneprotein-codingprotein-coding
Descriptionregulator of G-protein signaling 7regulator of G-protein signaling RGS7regulator of G-protein signalling 7dynein assembly factor 1, axonemalleucine-rich repeat-containing protein 50outer row dynein assembly 7 homologtesticular tissue protein Li 110
Modification date2018052220180523
UniProtAcc

P49802

Q8NEP3

Ensembl transtripts involved in fusion geneENST00000331110, ENST00000348120, 
ENST00000366563, ENST00000366564, 
ENST00000366565, ENST00000446183, 
ENST00000366562, ENST00000401882, 
ENST00000407727, 		ENST00000334315, 
ENST00000378553, ENST00000563818, 
Fusion gene scores* DoF score3 X 3 X 2=182 X 2 X 2=8
# samples 32
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(2/8*10)=1.32192809488736
Context

PubMed: RGS7 [Title/Abstract] AND DNAAF1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneRGS7

GO:0043547

positive regulation of GTPase activity

10521509


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BG997808RGS7chr1

241026235

-DNAAF1chr16

84203980

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000331110ENST00000334315RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000331110ENST00000378553RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000331110ENST00000563818RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000348120ENST00000334315RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000348120ENST00000378553RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000348120ENST00000563818RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000366563ENST00000334315RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000366563ENST00000378553RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000366563ENST00000563818RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000366564ENST00000334315RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000366564ENST00000378553RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000366564ENST00000563818RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000366565ENST00000334315RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000366565ENST00000378553RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000366565ENST00000563818RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000446183ENST00000334315RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000446183ENST00000378553RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000446183ENST00000563818RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000366562ENST00000334315RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000366562ENST00000378553RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000366562ENST00000563818RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000401882ENST00000334315RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000401882ENST00000378553RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000401882ENST00000563818RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000407727ENST00000334315RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000407727ENST00000378553RGS7chr1

241026235

-DNAAF1chr16

84203980

+
intron-intronENST00000407727ENST00000563818RGS7chr1

241026235

-DNAAF1chr16

84203980

+

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FusionProtFeatures for RGS7_DNAAF1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RGS7

P49802

DNAAF1

Q8NEP3

Regulates G protein-coupled receptor signaling cascades.Inhibits signal transduction by increasing the GTPase activity ofG protein alpha subunits, thereby driving them into their inactiveGDP-bound form (PubMed:10521509, PubMed:10862767). The RGS7/GNB5dimer enhances GNAO1 GTPase activity (PubMed:10521509). May play arole in synaptic vesicle exocytosis (PubMed:12659861). Modulatesthe activity of potassium channels that are activated by GNAO1 inresponse to muscarinic acetylcholine receptor M2/CHRM2 signaling(PubMed:15897264). {ECO:0000269|PubMed:10521509,ECO:0000269|PubMed:10862767, ECO:0000269|PubMed:15897264,ECO:0000305|PubMed:12659861}. Cilium-specific protein required for the stability ofthe ciliary architecture. Plays a role in cytoplasmic preassemblyof dynein arms. Involved in regulation of microtubule-based ciliaand actin-based brush border microvilli.{ECO:0000269|PubMed:18385425, ECO:0000269|PubMed:19944400,ECO:0000269|PubMed:19944405}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for RGS7_DNAAF1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for RGS7_DNAAF1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for RGS7_DNAAF1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for RGS7_DNAAF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRGS7C3714756Intellectual Disability1CTD_human
TgeneDNAAF1C2750790CILIARY DYSKINESIA, PRIMARY, 131CTD_human;UNIPROT